HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46399447T>C , CM000663.2:g.46399447T>C | GRCh38 |
NC_000001.10:g.46865119T>C , CM000663.1:g.46865119T>C | GRCh37 |
NC_000001.9:g.46637706T>C | NCBI36 |
NG_012195.1:g.10181T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000243167.9:c.196-2644T>C MANE Select | ENSP00000243167.8:n.196-2644T>C | |
ENST00000243167.8:c.196-2644T>C | ENSP00000243167.8:n.196-2644T>C | |
ENST00000468718.5:n.216-2644T>C | ||
ENST00000493735.5:n.174-2644T>C | ||
NM_001441.2:c.196-2644T>C | NP_001432.2:n.196-2644T>C | |
NM_001441.3:c.196-2644T>C MANE Select | NP_001432.2:n.196-2644T>C |